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Cerebral organic aciduria

MedGen UID:
1842677
•Concept ID:
C5681292
•
Disease or Syndrome
Orphanet: ORPHA79158

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCerebral organic aciduria

Professional guidelines

PubMed

Inconsistencies in the Nutrition Management of Glutaric Aciduria Type 1: An International Survey.
Bernstein L, Coughlin CR, Drumm M, Yannicelli S, Rohr F
Nutrients 2020 Oct 16;12(10) doi: 10.3390/nu12103162. PMID: 33081139Free PMC Article

Recent clinical studies

Etiology

The outcome of 41 Late-Diagnosed Turkish GA-1 Patients: A Candidate for the Turkish NBS.
Kılavuz S, Bulut D, Kor D, Şeker-Yılmaz B, Özcan N, Incecik F, Onan B, Ceylaner G, Önenli-Mungan N
Neuropediatrics 2021 Oct;52(5):358-369. Epub 2021 Feb 12 doi: 10.1055/s-0040-1722691. PMID: 33578440
Unravelling the complex MRI pattern in glutaric aciduria type I using statistical models-a cohort study in 180 patients.
Garbade SF, Greenberg CR, Demirkol M, Gökçay G, Ribes A, Campistol J, Burlina AB, Burgard P, Kölker S
J Inherit Metab Dis 2014 Sep;37(5):763-73. Epub 2014 May 9 doi: 10.1007/s10545-014-9676-9. PMID: 24810368

Diagnosis

The outcome of 41 Late-Diagnosed Turkish GA-1 Patients: A Candidate for the Turkish NBS.
Kılavuz S, Bulut D, Kor D, Şeker-Yılmaz B, Özcan N, Incecik F, Onan B, Ceylaner G, Önenli-Mungan N
Neuropediatrics 2021 Oct;52(5):358-369. Epub 2021 Feb 12 doi: 10.1055/s-0040-1722691. PMID: 33578440
Unravelling the complex MRI pattern in glutaric aciduria type I using statistical models-a cohort study in 180 patients.
Garbade SF, Greenberg CR, Demirkol M, Gökçay G, Ribes A, Campistol J, Burlina AB, Burgard P, Kölker S
J Inherit Metab Dis 2014 Sep;37(5):763-73. Epub 2014 May 9 doi: 10.1007/s10545-014-9676-9. PMID: 24810368
HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase.
Ferdinandusse S, Waterham HR, Heales SJ, Brown GK, Hargreaves IP, Taanman JW, Gunny R, Abulhoul L, Wanders RJ, Clayton PT, Leonard JV, Rahman S
Orphanet J Rare Dis 2013 Dec 4;8:188. doi: 10.1186/1750-1172-8-188. PMID: 24299452Free PMC Article
Glutaric aciduria type 1: clinical, biochemical and molecular findings in patients from Israel.
Korman SH, Jakobs C, Darmin PS, Gutman A, van der Knaap MS, Ben-Neriah Z, Dweikat I, Wexler ID, Salomons GS
Eur J Paediatr Neurol 2007 Mar;11(2):81-9. Epub 2006 Dec 26 doi: 10.1016/j.ejpn.2006.11.006. PMID: 17188916

Therapy

Inconsistencies in the Nutrition Management of Glutaric Aciduria Type 1: An International Survey.
Bernstein L, Coughlin CR, Drumm M, Yannicelli S, Rohr F
Nutrients 2020 Oct 16;12(10) doi: 10.3390/nu12103162. PMID: 33081139Free PMC Article
Effect of a 5-mo nutritional intervention on nutritional status and quality of life for patient with 3-hydroxyisobutyryl-coenzyme A hydrolase deficiency: A case report.
Li CW, Yu K, Xu Y, Sun XY, Li RR, Wang F
Nutrition 2015 Nov-Dec;31(11-12):1452-5. Epub 2015 Apr 20 doi: 10.1016/j.nut.2015.03.012. PMID: 26001807

Prognosis

Unravelling the complex MRI pattern in glutaric aciduria type I using statistical models-a cohort study in 180 patients.
Garbade SF, Greenberg CR, Demirkol M, Gökçay G, Ribes A, Campistol J, Burlina AB, Burgard P, Kölker S
J Inherit Metab Dis 2014 Sep;37(5):763-73. Epub 2014 May 9 doi: 10.1007/s10545-014-9676-9. PMID: 24810368

Clinical prediction guides

Cerebral White Matter Alterations Associated With Oligodendrocyte Vulnerability in Organic Acidurias: Insights in Glutaric Aciduria Type I.
Isasi E, Wajner M, Duarte JA, Olivera-Bravo S
Neurotox Res 2024 Jul 4;42(4):33. doi: 10.1007/s12640-024-00710-6. PMID: 38963434
Unravelling the complex MRI pattern in glutaric aciduria type I using statistical models-a cohort study in 180 patients.
Garbade SF, Greenberg CR, Demirkol M, Gökçay G, Ribes A, Campistol J, Burlina AB, Burgard P, Kölker S
J Inherit Metab Dis 2014 Sep;37(5):763-73. Epub 2014 May 9 doi: 10.1007/s10545-014-9676-9. PMID: 24810368
HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase.
Ferdinandusse S, Waterham HR, Heales SJ, Brown GK, Hargreaves IP, Taanman JW, Gunny R, Abulhoul L, Wanders RJ, Clayton PT, Leonard JV, Rahman S
Orphanet J Rare Dis 2013 Dec 4;8:188. doi: 10.1186/1750-1172-8-188. PMID: 24299452Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

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    Reviews

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